Hailey-Hailey disease (HHD) is an autosomal dominant skin disorder characterized by recurrent eruption of vesicles and bullae at the sites of friction and in the intertriginous areas. Mutations in the ATP2C1 gene encoding the human secretory pathway calcium ATPase 1 (hSPCA1) have been identified as the causative mutations in HHD. In this study, we used direct sequencing and restriction endonuclease digestion to analyze mutations of the ATP2C1 gene in a Chinese three-generation pedigree. A heterozygous T-to-C transition at nucleotide 1004 in exon 12 of ATP2C1 gene was detected. After summarizing the reported cases with ATP2C1 mutation, we concluded that the T1004C transition resulted in a novel missense mutation of leucine condon (CTG) to proline (CCG) at amino acid residue 335(L335P) in hSPCA1. Here, a genetic diagnosis was made for the proband's daughter before the clinical presentation. The study realized the molecular diagnosis in the HHD pedigree. Our findings should be useful for genetic counseling and prenatal diagnosis for the affected family and in demonstrating the critical role of the ATP2C1 gene in the pathogenesis of HHD further.

Disseminated Hailey-Hailey disease treated with topical tacrolimus and oral erythromycin: Case report and review of the literature.Acta Dermatovenerol Croat. 2006;14(4):253-7.

Hailey-Hailey disease is a rare autosomal dominant skin disorder that typically affects the intertriginous areas. The responsible defect has been identified in the gene named ATP2C1 on chromosome 3q21-24. We present a 50-year-old man with a 16-year history of blistering eruptions and positive familial history where this disease had appeared through four generations. The diagnosis was confirmed by histopathologic studies and negative immunofluorescence findings. A combination of topical tacrolimus therapy and oral erythromycin seemed to play a considerable part in this case, in which all of the lesions healed within 2 weeks.